Variant (rsID / SNP)
rs61755362
rs61755362 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PIGN. Location: chromosome 18, position 59,828,420. Clinical significance in the table: Benign.
Reference-table entries
PIGNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 18:59828420
- Cytoband
- 18q21.33
- HGVS
- NM_176787.5(PIGN):c.167C>T (p.Ala56Val)
- Allele change
- Missense_A56V
Associated conditions / phenotypes
Multiple congenital anomalies-hypotonia-seizures syndrome 1|History of neurodevelopmental disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.